3353 lines
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Entry
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- *612515 - DDB1- AND CUL4-ASSOCIATED FACTOR 17; DCAF17
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- OMIM
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<p>
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<span class="h4">*612515</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/612515">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000115827;t=ENST00000375255" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=80067" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=612515" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000115827;t=ENST00000375255" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001164821,NM_025000,NR_028482,XM_006712768,XM_011511881,XM_011511882,XM_017004996,XM_017004999,XM_017005001,XM_047445911,XM_047445912,XM_047445913,XR_007082530" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_025000" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=612515" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=08579&isoform_id=08579_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/DCAF17" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/10434955,57999477,62822180,74707874,100816140,111306417,113197958,119631617,119631618,187954633,259906085,578804941,767919857,767919859,1034616788,1034616795,1034616799,2217331159,2217331162,2217331166,2462577375,2462577377,2462577379,2462577381,2462577383,2462577386,2462577389,2462577391,2462577393,2462577395,2462577397" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q5H9S7" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=80067" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000115827;t=ENST00000375255" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAF17" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=DCAF17" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+80067" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/DCAF17" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:80067" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/80067" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000375255.8&hgg_start=171434226&hgg_end=171485052&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:25784" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/dcaf17" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612515[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=612515[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000115827" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=DCAF17" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=DCAF17" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=DCAF17" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=DCAF17&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA165696520" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:25784" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1923013" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/DCAF17#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1923013" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/80067/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA002894/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=80067" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-071008-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=DCAF17&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 816067005<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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612515
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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DDB1- AND CUL4-ASSOCIATED FACTOR 17; DCAF17
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CHROMOSOME 2 OPEN READING FRAME 37; C2ORF37
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DCAF17" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DCAF17</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/2/771?start=-3&limit=10&highlight=771">2q31.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:171434226-171485052&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:171,434,226-171,485,052</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/2/771?start=-3&limit=10&highlight=771">
|
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2q31.1
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Woodhouse-Sakati syndrome
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/241080"> 241080 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/612515" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/612515" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<p><a href="#1" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. <strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong> Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19026396">Alazami et al. (2008)</a> identified the C2ORF37 gene within a region of chromosome 2 to which they had mapped the locus for the hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome, also known as Woodhouse-Sakati syndrome (WDSKS; <a href="/entry/241080">241080</a>). The gene displays extreme splicing variability, including 2 major variants, called alpha and beta, that encode proteins of 240 and 520 amino acids, respectively. The alpha isoform is identical to the last 240 amino acids of the beta isoform. Real-time RT-PCR of various adult human tissues revealed low ubiquitous expression of both variants. Immunohistochemical analysis showed nearly ubiquitous nucleolar expression of C2orf37 in mouse embryos, with enhanced staining in brain, liver, and skin. Both the alpha and beta isoforms of endogenous C2ORF37 colocalized with the nucleolar phosphoprotein B23 (NPM1; <a href="/entry/164040">164040</a>) in human embryonic kidney (HEK293) cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19026396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. <strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong> Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19026396">Alazami et al. (2008)</a> determined that the C2ORF37 gene contains at least 14 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19026396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#1" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. <strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong> Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19026396">Alazami et al. (2008)</a> mapped the DCAF17 gene to chromosome 2q22.3-q35. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19026396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By subjecting HEK293 cells to low and high doses of actinomycin D, a powerful inhibitor of transcription, <a href="#1" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. <strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong> Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19026396">Alazami et al. (2008)</a> showed that the nucleolar localization of the alpha and beta isoforms of C2ORF37 is only partially dependent on active transcription. They found that in normal control lymphoblasts, C2ORF37 and B23 migrated from the nucleolar compartment to the nucleoplasm after high-dose actinomycin D treatment, but remained largely nucleolar at lower doses. In contrast, in lymphoblasts from patients with WDSKS, C2ORF37 and B23 migrated to the nucleoplasmic compartment after low-dose actinomycin D treatment, suggesting enhanced sensitivity to transcriptional blockade. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19026396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 8 Saudi families with an extrapyramidal movement disorder associated with hypogonadism, alopecia, diabetes mellitus, and mental retardation, also known as Woodhouse-Sakati syndrome (WDSKS; <a href="/entry/241080">241080</a>), including 1 of the original families described by <a href="#7" class="mim-tip-reference" title="Woodhouse, N. J. Y., Sakati, N. A. <strong>A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.</strong> J. Med. Genet. 20: 216-219, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6876115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6876115</a>] [<a href="https://doi.org/10.1136/jmg.20.3.216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6876115">Woodhouse and Sakati (1983)</a>, <a href="#1" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. <strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong> Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19026396">Alazami et al. (2008)</a> identified homozygosity for a 1-bp deletion in the C2ORF37 gene (<a href="#0001">612515.0001</a>). The authors subsequently identified homozygosity for a different 1-bp deletion and 2 splice site mutations in the C2ORF37 gene in 3 additional families of varying ethnicities with WDSKS, respectively (see <a href="#0002">612515.0002</a>-<a href="#0004">612515.0004</a>). The mutations segregated fully with disease in all of the families and were not found in ethnically matched controls. The 2 splice site mutations were predicted to be pathogenic for both major transcripts, whereas the 2 deletion mutations were predicted to affect only the beta-isoform. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6876115+19026396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S. <strong>C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.</strong> Clin. Genet. 78: 585-590, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20507343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20507343</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01441.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20507343">Alazami et al. (2010)</a> analyzed the C2ORF37 gene in 7 patients with Woodhouse-Sakati syndrome from 4 unrelated families, 2 of Italian origin, 1 of French-Gypsy origin, and 1 of Turkish origin, and identified homozygosity for 3 nonsense mutations (<a href="#0005">612515.0005</a>-<a href="#0007">612515.0007</a>, respectively) and 1 deletion/insertion (<a href="#0008">612515.0008</a>). Screening of the C2ORF37 gene in a cohort of 11 patients with deafness and dystonia but no hypogonadism, alopecia, or mental retardation did not reveal any mutations, suggesting that mutation in C2ORF37 does not contribute significantly to cases presenting with isolated elements of Woodhouse-Sakati syndrome. <a href="#2" class="mim-tip-reference" title="Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S. <strong>C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.</strong> Clin. Genet. 78: 585-590, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20507343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20507343</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01441.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20507343">Alazami et al. (2010)</a> found no correlation between clinical expressivity and site of mutation, and noted that the intrafamilial variability in the mutation-positive patients indicated that modifiers likely play an important role in this disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20507343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797045038 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797045038;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs797045038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs797045038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 7 affected members of 2 Saudi families with Woodhouse-Sakati syndrome (WDSKS; <a href="/entry/241080">241080</a>), including 1 of the original families described by <a href="#7" class="mim-tip-reference" title="Woodhouse, N. J. Y., Sakati, N. A. <strong>A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.</strong> J. Med. Genet. 20: 216-219, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6876115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6876115</a>] [<a href="https://doi.org/10.1136/jmg.20.3.216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6876115">Woodhouse and Sakati (1983)</a>, <a href="#1" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. <strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong> Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19026396">Alazami et al. (2008)</a> identified homozygosity for a 1-bp deletion (436delC) in exon 4 of the DCAF17 gene, predicted to cause a frameshift in the beta-isoform of the protein and result in premature termination. The authors stated that in the alpha-isoform, the 1-bp deletion was predicted to lie in the 5-prime UTR and was unlikely to be pathogenic. The mutation was subsequently identified in 6 additional Saudi families with the disorder, but not in 274 Saudi control chromosomes. SNP-based haplotype analysis confirmed a founder effect, and the deletion likely arose approximately 55 generations earlier. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6876115+19026396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1559245286 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559245286;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1559245286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1559245286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 52-year-old Eastern European woman with Woodhouse-Sakati syndrome (WDSKS; <a href="/entry/241080">241080</a>), previously reported by <a href="#4" class="mim-tip-reference" title="Medica, I., Sepcic, J., Peterlin, B. <strong>Woodhouse-Sakati syndrome: case report and symptoms review.</strong> Genet. Counsel. 18: 227-231, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17710875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17710875</a>]" pmid="17710875">Medica et al. (2007)</a>, <a href="#1" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. <strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong> Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19026396">Alazami et al. (2008)</a> identified homozygosity for a 1-bp deletion (50delC) in exon 1b of the DCAF17 gene, predicted to cause a frameshift in the beta-isoform of the protein only. The mutation was not found in 210 Slovenian control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19026396+17710875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1314048356 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1314048356;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1314048356?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1314048356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1314048356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 affected sibs from a consanguineous Indian family with Woodhouse-Sakati syndrome (WDSKS; <a href="/entry/241080">241080</a>), previously reported by <a href="#3" class="mim-tip-reference" title="Koshy, G., Danda, S., Thomas, N., Mathews, V., Viswanathan, V. <strong>Three siblings with Woodhouse-Sakati syndrome in an Indian family.</strong> Clin. Dysmorph. 17: 57-60, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18049083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18049083</a>] [<a href="https://doi.org/10.1097/MCD.0b013e3282beb59e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18049083">Koshy et al. (2008)</a>, <a href="#1" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. <strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong> Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19026396">Alazami et al. (2008)</a> identified homozygosity for a G-T transversion at a splice site in intron 13 of the DCAF17 gene (1422+5G-T), predicted to change the consensus donor sequence and result in a dramatic drop in splicing efficiency. The mutation was not found in 196 Indian control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19026396+18049083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1559289651 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559289651;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1559289651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1559289651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 affected sibs from a consanguineous Middle Eastern family with Woodhouse-Sakati syndrome (WDSKS; <a href="/entry/241080">241080</a>), previously reported by <a href="#5" class="mim-tip-reference" title="Schneider, S. A., Bhatia, K. P. <strong>Dystonia in the Woodhouse Sakati syndrome: a new family and literature review.</strong> Mov. Disord. 23: 592-596, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18175354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18175354</a>] [<a href="https://doi.org/10.1002/mds.21886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18175354">Schneider and Bhatia (2008)</a>, <a href="#1" class="mim-tip-reference" title="Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S. <strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong> Am. J. Hum. Genet. 83: 684-691, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.10.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19026396">Alazami et al. (2008)</a> identified homozygosity for a T-G transversion at a splice site in intron 10 of the DCAF17 gene (1091+6T-G), predicted to cause skipping of exon 10 and result in a frameshift. The mutation was not found in 250 Middle Eastern control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19026396+18175354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1559264135 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559264135;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1559264135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1559264135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 sibs from a consanguineous family of French-Gypsy origin with Woodhouse-Sakati syndrome (WDSKS; <a href="/entry/241080">241080</a>), <a href="#2" class="mim-tip-reference" title="Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S. <strong>C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.</strong> Clin. Genet. 78: 585-590, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20507343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20507343</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01441.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20507343">Alazami et al. (2010)</a> identified homozygosity for a 387G-A transition in exon 4 of the DCAF17 gene, resulting in a trp129-to-ter (W129X) substitution. The affected 15-year-old brother had alopecia, pubertal delay, mild sensorineural deafness, and mild cognitive impairment. His affected sisters, who were 13 and 12 years old, respectively, had alopecia and pubertal delay, but no hearing or cognitive impairment. The boy had hypogonadotropic hypogonadism, whereas his 2 sisters had hypergonadotropic hypogonadism. None of the sibs responded to usual doses of steroid treatment, but they had slow and limited responses to high-dose hormone replacement. None of the sibs displayed dystonia or diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20507343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 WOODHOUSE-SAKATI SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs761229686 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs761229686;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs761229686?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs761229686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs761229686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024287" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024287" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024287</a>
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<p>In a 58-year-old Italian man with Woodhouse-Sakati syndrome (WDSKS; <a href="/entry/241080">241080</a>), <a href="#2" class="mim-tip-reference" title="Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S. <strong>C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.</strong> Clin. Genet. 78: 585-590, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20507343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20507343</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01441.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20507343">Alazami et al. (2010)</a> identified homozygosity for a 906G-A transition in exon 9 of the DCAF17 gene, resulting in a trp302-to-ter (W302X) substitution. The proband exhibited the full constellation of hypogonadism, alopecia, diabetes mellitus, cognitive impairment, and dystonia. His sister, who was reported to have died at 46 years of age of myocardial infarction and heart block, had autopsy findings that suggested the presence of alopecia and hypogonadism. There was also a distant female relative in this pedigree who had similar clinical features to those of the proband. <a href="#6" class="mim-tip-reference" title="Steindl, K., Alazami, A. M., Bhatia, K. P., Wuerfel, J. T., Petersen, D., Cartolari, R., Neri, G., Klein, C., Mongiardo, B., Alkuraya, F. S., Schneider, S. A. <strong>A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. (Letter)</strong> Clin. Genet. 78: 594-597, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21044051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21044051</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01447.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21044051">Steindl et al. (2010)</a> provided additional clinical details on this family, noting that all 3 affected individuals had anodontia from an early age. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20507343+21044051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0007 WOODHOUSE-SAKATI SYNDROME</strong>
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DCAF17, SER114TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs760978794 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs760978794;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs760978794?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs760978794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs760978794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024288" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024288" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024288</a>
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<p>In a 41-year-old Italian woman with Woodhouse-Sakati syndrome (WDSKS; <a href="/entry/241080">241080</a>), who was born of first-cousin parents, <a href="#2" class="mim-tip-reference" title="Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S. <strong>C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.</strong> Clin. Genet. 78: 585-590, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20507343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20507343</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01441.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20507343">Alazami et al. (2010)</a> identified homozygosity for a 341C-A transversion in exon 4 of the DCAF17 gene, resulting in a ser114-to-ter (S114X) substitution. The patient presented for evaluation of primary amenorrhea, progressive alopecia, and hearing loss; she also developed type 1 diabetes in her early thirties, and was assessed to have mild developmental disability with deterioration from previously higher function. She had a similarly affected younger sib, who had hypogonadism, alopecia, diabetes mellitus, cognitive impairment, and hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20507343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0008 WOODHOUSE-SAKATI SYNDROME</strong>
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</h4>
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<span class="mim-text-font">
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DCAF17, 3-BP DEL/2-BP INS, 127TAG/AA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1574303761 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1574303761;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1574303761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1574303761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024289" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024289" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024289</a>
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<span class="mim-text-font">
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<p>In a 36-year-old man of Turkish origin with Woodhouse-Sakati syndrome (WDSKS; <a href="/entry/241080">241080</a>), who was born of first-cousin parents, <a href="#2" class="mim-tip-reference" title="Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S. <strong>C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.</strong> Clin. Genet. 78: 585-590, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20507343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20507343</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01441.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20507343">Alazami et al. (2010)</a> identified homozygosity for a 3-bp deletion/2-bp insertion (127delTAGinsAA) that replaces the last 3 basepairs of intron 1 of the DCAF17 gene and is predicted to result in aberrant splicing. The proband stated that he had an affected brother and 2 affected sisters who shared his phenotype of alopecia, cognitive impairment, and dystonia. Additional features in the proband included hypothyroidism and infertility due to azoospermia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20507343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Alazami2008" class="mim-anchor"></a>
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Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S.
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<strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong>
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Am. J. Hum. Genet. 83: 684-691, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19026396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19026396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19026396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19026396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.10.018" target="_blank">Full Text</a>]
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<a id="Alazami2010" class="mim-anchor"></a>
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Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S.
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<strong>C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.</strong>
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Clin. Genet. 78: 585-590, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20507343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20507343</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20507343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2010.01441.x" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Koshy2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Koshy, G., Danda, S., Thomas, N., Mathews, V., Viswanathan, V.
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<strong>Three siblings with Woodhouse-Sakati syndrome in an Indian family.</strong>
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Clin. Dysmorph. 17: 57-60, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18049083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18049083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18049083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/MCD.0b013e3282beb59e" target="_blank">Full Text</a>]
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<a id="Medica2007" class="mim-anchor"></a>
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<p class="mim-text-font">
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Medica, I., Sepcic, J., Peterlin, B.
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<strong>Woodhouse-Sakati syndrome: case report and symptoms review.</strong>
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Genet. Counsel. 18: 227-231, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17710875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17710875</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17710875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Schneider2008" class="mim-anchor"></a>
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Schneider, S. A., Bhatia, K. P.
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<strong>Dystonia in the Woodhouse Sakati syndrome: a new family and literature review.</strong>
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Mov. Disord. 23: 592-596, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18175354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18175354</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18175354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mds.21886" target="_blank">Full Text</a>]
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<a id="Steindl2010" class="mim-anchor"></a>
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Steindl, K., Alazami, A. M., Bhatia, K. P., Wuerfel, J. T., Petersen, D., Cartolari, R., Neri, G., Klein, C., Mongiardo, B., Alkuraya, F. S., Schneider, S. A.
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<strong>A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. (Letter)</strong>
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Clin. Genet. 78: 594-597, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21044051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21044051</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21044051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2010.01447.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Woodhouse1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Woodhouse, N. J. Y., Sakati, N. A.
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<strong>A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.</strong>
|
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J. Med. Genet. 20: 216-219, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6876115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6876115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6876115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.20.3.216" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 5/18/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 1/26/2009
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 12/31/2008
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/20/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/14/2019<br>carol : 05/03/2019<br>carol : 05/22/2012<br>terry : 5/18/2012<br>alopez : 3/27/2012<br>wwang : 1/28/2009<br>terry : 1/26/2009<br>carol : 12/31/2008
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 612515
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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DDB1- AND CUL4-ASSOCIATED FACTOR 17; DCAF17
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CHROMOSOME 2 OPEN READING FRAME 37; C2ORF37
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DCAF17</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 816067005;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 2q31.1
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:171,434,226-171,485,052 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
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<th>
|
|
Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
|
2q31.1
|
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Woodhouse-Sakati syndrome
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
241080
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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|
|
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<span class="mim-text-font">
|
|
<p>Alazami et al. (2008) identified the C2ORF37 gene within a region of chromosome 2 to which they had mapped the locus for the hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome, also known as Woodhouse-Sakati syndrome (WDSKS; 241080). The gene displays extreme splicing variability, including 2 major variants, called alpha and beta, that encode proteins of 240 and 520 amino acids, respectively. The alpha isoform is identical to the last 240 amino acids of the beta isoform. Real-time RT-PCR of various adult human tissues revealed low ubiquitous expression of both variants. Immunohistochemical analysis showed nearly ubiquitous nucleolar expression of C2orf37 in mouse embryos, with enhanced staining in brain, liver, and skin. Both the alpha and beta isoforms of endogenous C2ORF37 colocalized with the nucleolar phosphoprotein B23 (NPM1; 164040) in human embryonic kidney (HEK293) cells. </p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
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</span>
|
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</h4>
|
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</div>
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|
|
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<span class="mim-text-font">
|
|
<p>Alazami et al. (2008) determined that the C2ORF37 gene contains at least 14 exons. </p>
|
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</span>
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<div>
|
|
<br />
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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|
|
|
|
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<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Alazami et al. (2008) mapped the DCAF17 gene to chromosome 2q22.3-q35. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
|
|
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|
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>By subjecting HEK293 cells to low and high doses of actinomycin D, a powerful inhibitor of transcription, Alazami et al. (2008) showed that the nucleolar localization of the alpha and beta isoforms of C2ORF37 is only partially dependent on active transcription. They found that in normal control lymphoblasts, C2ORF37 and B23 migrated from the nucleolar compartment to the nucleoplasm after high-dose actinomycin D treatment, but remained largely nucleolar at lower doses. In contrast, in lymphoblasts from patients with WDSKS, C2ORF37 and B23 migrated to the nucleoplasmic compartment after low-dose actinomycin D treatment, suggesting enhanced sensitivity to transcriptional blockade. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 8 Saudi families with an extrapyramidal movement disorder associated with hypogonadism, alopecia, diabetes mellitus, and mental retardation, also known as Woodhouse-Sakati syndrome (WDSKS; 241080), including 1 of the original families described by Woodhouse and Sakati (1983), Alazami et al. (2008) identified homozygosity for a 1-bp deletion in the C2ORF37 gene (612515.0001). The authors subsequently identified homozygosity for a different 1-bp deletion and 2 splice site mutations in the C2ORF37 gene in 3 additional families of varying ethnicities with WDSKS, respectively (see 612515.0002-612515.0004). The mutations segregated fully with disease in all of the families and were not found in ethnically matched controls. The 2 splice site mutations were predicted to be pathogenic for both major transcripts, whereas the 2 deletion mutations were predicted to affect only the beta-isoform. </p><p>Alazami et al. (2010) analyzed the C2ORF37 gene in 7 patients with Woodhouse-Sakati syndrome from 4 unrelated families, 2 of Italian origin, 1 of French-Gypsy origin, and 1 of Turkish origin, and identified homozygosity for 3 nonsense mutations (612515.0005-612515.0007, respectively) and 1 deletion/insertion (612515.0008). Screening of the C2ORF37 gene in a cohort of 11 patients with deafness and dystonia but no hypogonadism, alopecia, or mental retardation did not reveal any mutations, suggesting that mutation in C2ORF37 does not contribute significantly to cases presenting with isolated elements of Woodhouse-Sakati syndrome. Alazami et al. (2010) found no correlation between clinical expressivity and site of mutation, and noted that the intrafamilial variability in the mutation-positive patients indicated that modifiers likely play an important role in this disease. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>8 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 WOODHOUSE-SAKATI SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DCAF17, 1-BP DEL, 436C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs797045038,
|
|
|
|
|
|
|
|
ClinVar: RCV000191077, RCV000278884, RCV004757156
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 7 affected members of 2 Saudi families with Woodhouse-Sakati syndrome (WDSKS; 241080), including 1 of the original families described by Woodhouse and Sakati (1983), Alazami et al. (2008) identified homozygosity for a 1-bp deletion (436delC) in exon 4 of the DCAF17 gene, predicted to cause a frameshift in the beta-isoform of the protein and result in premature termination. The authors stated that in the alpha-isoform, the 1-bp deletion was predicted to lie in the 5-prime UTR and was unlikely to be pathogenic. The mutation was subsequently identified in 6 additional Saudi families with the disorder, but not in 274 Saudi control chromosomes. SNP-based haplotype analysis confirmed a founder effect, and the deletion likely arose approximately 55 generations earlier. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 WOODHOUSE-SAKATI SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
DCAF17, 1-BP DEL, 50C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1559245286,
|
|
|
|
|
|
|
|
ClinVar: RCV000000561
|
|
|
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|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 52-year-old Eastern European woman with Woodhouse-Sakati syndrome (WDSKS; 241080), previously reported by Medica et al. (2007), Alazami et al. (2008) identified homozygosity for a 1-bp deletion (50delC) in exon 1b of the DCAF17 gene, predicted to cause a frameshift in the beta-isoform of the protein only. The mutation was not found in 210 Slovenian control chromosomes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 WOODHOUSE-SAKATI SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
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|
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<div>
|
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<span class="mim-text-font">
|
|
|
|
DCAF17, IVS13, G-T, +5
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1314048356,
|
|
|
|
|
|
gnomAD: rs1314048356,
|
|
|
|
|
|
ClinVar: RCV000000562
|
|
|
|
|
|
</span>
|
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</div>
|
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|
|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 affected sibs from a consanguineous Indian family with Woodhouse-Sakati syndrome (WDSKS; 241080), previously reported by Koshy et al. (2008), Alazami et al. (2008) identified homozygosity for a G-T transversion at a splice site in intron 13 of the DCAF17 gene (1422+5G-T), predicted to change the consensus donor sequence and result in a dramatic drop in splicing efficiency. The mutation was not found in 196 Indian control chromosomes. </p>
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<span class="mim-font">
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<strong>.0004 WOODHOUSE-SAKATI SYNDROME</strong>
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</h4>
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<span class="mim-text-font">
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DCAF17, IVS10DS, T-G, +6
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<br />
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SNP: rs1559289651,
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ClinVar: RCV000000563
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<span class="mim-text-font">
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<p>In 2 affected sibs from a consanguineous Middle Eastern family with Woodhouse-Sakati syndrome (WDSKS; 241080), previously reported by Schneider and Bhatia (2008), Alazami et al. (2008) identified homozygosity for a T-G transversion at a splice site in intron 10 of the DCAF17 gene (1091+6T-G), predicted to cause skipping of exon 10 and result in a frameshift. The mutation was not found in 250 Middle Eastern control chromosomes. </p>
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<span class="mim-font">
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<strong>.0005 WOODHOUSE-SAKATI SYNDROME</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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DCAF17, TRP129TER
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<br />
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SNP: rs1559264135,
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ClinVar: RCV000024286
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<p>In 3 sibs from a consanguineous family of French-Gypsy origin with Woodhouse-Sakati syndrome (WDSKS; 241080), Alazami et al. (2010) identified homozygosity for a 387G-A transition in exon 4 of the DCAF17 gene, resulting in a trp129-to-ter (W129X) substitution. The affected 15-year-old brother had alopecia, pubertal delay, mild sensorineural deafness, and mild cognitive impairment. His affected sisters, who were 13 and 12 years old, respectively, had alopecia and pubertal delay, but no hearing or cognitive impairment. The boy had hypogonadotropic hypogonadism, whereas his 2 sisters had hypergonadotropic hypogonadism. None of the sibs responded to usual doses of steroid treatment, but they had slow and limited responses to high-dose hormone replacement. None of the sibs displayed dystonia or diabetes. </p>
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<br />
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<h4>
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<span class="mim-font">
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<strong>.0006 WOODHOUSE-SAKATI SYNDROME</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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DCAF17, TRP302TER
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<br />
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SNP: rs761229686,
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gnomAD: rs761229686,
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ClinVar: RCV000024287
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 58-year-old Italian man with Woodhouse-Sakati syndrome (WDSKS; 241080), Alazami et al. (2010) identified homozygosity for a 906G-A transition in exon 9 of the DCAF17 gene, resulting in a trp302-to-ter (W302X) substitution. The proband exhibited the full constellation of hypogonadism, alopecia, diabetes mellitus, cognitive impairment, and dystonia. His sister, who was reported to have died at 46 years of age of myocardial infarction and heart block, had autopsy findings that suggested the presence of alopecia and hypogonadism. There was also a distant female relative in this pedigree who had similar clinical features to those of the proband. Steindl et al. (2010) provided additional clinical details on this family, noting that all 3 affected individuals had anodontia from an early age. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 WOODHOUSE-SAKATI SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DCAF17, SER114TER
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<br />
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SNP: rs760978794,
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gnomAD: rs760978794,
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ClinVar: RCV000024288
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 41-year-old Italian woman with Woodhouse-Sakati syndrome (WDSKS; 241080), who was born of first-cousin parents, Alazami et al. (2010) identified homozygosity for a 341C-A transversion in exon 4 of the DCAF17 gene, resulting in a ser114-to-ter (S114X) substitution. The patient presented for evaluation of primary amenorrhea, progressive alopecia, and hearing loss; she also developed type 1 diabetes in her early thirties, and was assessed to have mild developmental disability with deterioration from previously higher function. She had a similarly affected younger sib, who had hypogonadism, alopecia, diabetes mellitus, cognitive impairment, and hearing loss. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 WOODHOUSE-SAKATI SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DCAF17, 3-BP DEL/2-BP INS, 127TAG/AA
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<br />
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SNP: rs1574303761,
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ClinVar: RCV000024289
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 36-year-old man of Turkish origin with Woodhouse-Sakati syndrome (WDSKS; 241080), who was born of first-cousin parents, Alazami et al. (2010) identified homozygosity for a 3-bp deletion/2-bp insertion (127delTAGinsAA) that replaces the last 3 basepairs of intron 1 of the DCAF17 gene and is predicted to result in aberrant splicing. The proband stated that he had an affected brother and 2 affected sisters who shared his phenotype of alopecia, cognitive impairment, and dystonia. Additional features in the proband included hypothyroidism and infertility due to azoospermia. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Alazami, A. M., Al-Saif, A., Al-Semari, A., Bohlega, S., Zlitni, S., Alzahrani, F., Bavi, P., Kaya, N., Colak, D., Khalak, H., Baltus, A., Peterlin, B., Danda, S., Bhatia, K. P., Schneider, S. A., Sakati, N., Walsh, C. A., Al-Mohanna, F., Meyer, B., Alkuraya, F. S.
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<strong>Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.</strong>
|
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Am. J. Hum. Genet. 83: 684-691, 2008.
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[PubMed: 19026396]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.10.018]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Alazami, A. M., Schneider, S. A., Bonneau, D., Pasquier, L., Carecchio, M., Kojovic, M., Steindl, K., de Kerdanet, M., Nezarati, M. M., Bhatia, K. P., Degos, B., Goh, E., Alkuraya, F. S.
|
|
<strong>C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.</strong>
|
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Clin. Genet. 78: 585-590, 2010.
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[PubMed: 20507343]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01441.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Koshy, G., Danda, S., Thomas, N., Mathews, V., Viswanathan, V.
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<strong>Three siblings with Woodhouse-Sakati syndrome in an Indian family.</strong>
|
|
Clin. Dysmorph. 17: 57-60, 2008.
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[PubMed: 18049083]
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[Full Text: https://doi.org/10.1097/MCD.0b013e3282beb59e]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Medica, I., Sepcic, J., Peterlin, B.
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<strong>Woodhouse-Sakati syndrome: case report and symptoms review.</strong>
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Genet. Counsel. 18: 227-231, 2007.
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[PubMed: 17710875]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Schneider, S. A., Bhatia, K. P.
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<strong>Dystonia in the Woodhouse Sakati syndrome: a new family and literature review.</strong>
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Mov. Disord. 23: 592-596, 2008.
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[PubMed: 18175354]
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[Full Text: https://doi.org/10.1002/mds.21886]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Steindl, K., Alazami, A. M., Bhatia, K. P., Wuerfel, J. T., Petersen, D., Cartolari, R., Neri, G., Klein, C., Mongiardo, B., Alkuraya, F. S., Schneider, S. A.
|
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<strong>A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. (Letter)</strong>
|
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Clin. Genet. 78: 594-597, 2010.
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[PubMed: 21044051]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01447.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Woodhouse, N. J. Y., Sakati, N. A.
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<strong>A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.</strong>
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J. Med. Genet. 20: 216-219, 1983.
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[PubMed: 6876115]
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[Full Text: https://doi.org/10.1136/jmg.20.3.216]
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</p>
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</li>
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</ol>
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<div>
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<br />
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Marla J. F. O'Neill - updated : 5/18/2012<br>Marla J. F. O'Neill - updated : 1/26/2009
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Patricia A. Hartz : 12/31/2008
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alopez : 03/20/2023<br>carol : 10/14/2019<br>carol : 05/03/2019<br>carol : 05/22/2012<br>terry : 5/18/2012<br>alopez : 3/27/2012<br>wwang : 1/28/2009<br>terry : 1/26/2009<br>carol : 12/31/2008
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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